Submissions for variant NM_020956.2(PRX):c.*1688_*1765del (rs1555801137)

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Total submissions: 3

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000462384	SCV000551426	uncertain significance	Charcot-Marie-Tooth disease type 4	2018-10-12	criteria provided, single submitter	clinical testing	This sequence change occurs in exon 7 of the PRX gene where multiple nearly identical repetitive sequences occur. The repetitive nature of this region poses technical challenges and, therefore, there is some ambiguity regarding the exact position of this variant. The most probable description of this variant is deletion of 78 nucleotides of the PRX mRNA (NM_181882.2:c.1483_1560del), leading to the deletion of 26 amino acid residues in the PRX protein (p.Glu495_Val520del). The reading frame is otherwise preserved. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PRX-related disease. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx	RCV000522870	SCV000618239	uncertain significance	not provided	2018-01-31	criteria provided, single submitter	clinical testing	A variant of uncertain significance has been identified in the PRX gene. The c.1483_1560del78 variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.1483_1560del78 variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.1483_1560del78 variant results in an in-frame deletion of 26 amino acids, denoted p.Glu495_Val520del. In-frame deletions of the PRX gene have not been previously reported in association with neuropathy to our knowledge (Stenson et al., 2014). Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Genomic Research Center, Shahid Beheshti University of Medical Sciences	RCV000791177	SCV000930457	uncertain significance	Charcot-Marie-Tooth disease, demyelinating, type 4F	2019-04-27	criteria provided, single submitter	clinical testing

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